PGD by FISH for a reciprocal translocation-first baby from South India

Abstract

Introduction: Chromosomal abnormalities plays a major role in early pregnancy loss and can also cause infertility. Balanced translocations carriers have high risk of having an abnormal pregnancy . The balanced translocation status remains undetectable unless they reproduce or have first trimester pregnancy loss . Earlier the only option left to couples carrying a genetic or chromosomal abnormality was a donor option if the couple fails to conceive a healthy pregnancy naturally. Preimplantation genetic diagnosis (PGD) is a widely accepted and practiced technology which helps to select and transfer an euploid or genetically normal embryo thereby avoiding the use of donor gametes. There are many technologies available to screen and diagnose chromosomal abnormalities in embryos. Fluorescent in situ hybridization (FISH) technique is the gold standard applied to detect unbalanced chromosomal defects due to balanced translocations. The aim of this study was to prove the efficacy of the FISH technique to detect the aneuploidies on embryos resulting from balanced translocation and whether a single euploid embryo transfer can result in a pregnancy.